Canonical Allele Identifier: CA375403624

Gene: ADAMTS13

Linked Data

• MyVariant Identifiers: chr9:g.133448619C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133448619C>G , CM000671.2:g.133448619C>G	GRCh38
NC_000009.10:g.135303561C>G	NCBI36
NG_011934.2:g.39281C>G , LRG_544:g.39281C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.2752C>G MANE Select	ENSP00000347927.2:p.Leu918Val
ENST00000355699.6:c.2752C>G	ENSP00000347927.2:p.Leu918Val
ENST00000356589.6:c.2659C>G	ENSP00000348997.2:p.Leu887Val
ENST00000371916.5:c.*221C>G	ENSP00000360984.2:n.*221C>G
ENST00000371929.7:c.2752C>G	ENSP00000360997.3:p.Leu918Val
ENST00000485925.5:n.1568C>G
ENST00000495234.5:c.*1584C>G	ENSP00000435274.1:n.*1584C>G
NM_139025.4:c.2752C>G , LRG_544t1:c.2752C>G	NP_620594.1:p.Leu918Val
NM_139026.4:c.2659C>G	NP_620595.1:p.Leu887Val
NM_139027.4:c.2752C>G	NP_620596.2:p.Leu918Val
NR_024514.2:n.1587C>G
XM_011518174.1:c.2362C>G	XP_011516476.1:p.Leu788Val
XM_011518175.1:c.2752C>G	XP_011516477.1:p.Leu918Val
XM_011518176.1:c.1768C>G	XP_011516478.1:p.Leu590Val
XM_011518177.1:c.1762C>G	XP_011516479.1:p.Leu588Val
XM_011518178.1:c.1417C>G	XP_011516480.1:p.Leu473Val
XM_011518179.1:c.1417C>G	XP_011516481.1:p.Leu473Val
XM_011518180.1:c.1018C>G	XP_011516482.1:p.Leu340Val
XM_011518176.3:c.1768C>G	XP_011516478.1:p.Leu590Val
XM_011518178.2:c.1417C>G	XP_011516480.1:p.Leu473Val
XM_017014232.1:c.2740C>G	XP_016869721.1:p.Leu914Val
XM_017014233.1:c.2362C>G	XP_016869722.1:p.Leu788Val
XM_017014234.2:c.1762C>G	XP_016869723.1:p.Leu588Val
XR_001746171.1:n.3525C>G
NM_139026.5:c.2659C>G	NP_620595.1:p.Leu887Val
NM_139027.5:c.2752C>G	NP_620596.2:p.Leu918Val
NM_139025.5:c.2752C>G	NP_620594.1:p.Leu918Val
NM_139026.6:c.2659C>G	NP_620595.1:p.Leu887Val
NM_139027.6:c.2752C>G MANE Select	NP_620596.2:p.Leu918Val
NR_024514.3:n.1589C>G